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Abstract
A family affected with hyperbetalipoproteinemia was studied. Two siblings, a boy 11
and a girl 9 years of age, with characteristic findings of homozygous type II hyperlipoproteinemia
are described. The highly atherogenetic nature of this disorder is illustrated by
the occurrence of progressive coronary atheromatosis in the boy, in whom two coronary
arteriographic studies documented the development of progressive obstruction of two
coronary arteries in the course of 2 years. During this interval angina pectoris developed
followed by myocardial infarction, cardiomegaly and congestive heart failure. The
sister has remained asymptomatic, with apparently normal coronary arteries at age
9 years. Phonocardiograms were suggestive of aortic valve involvement although no
aortic valve gradient was demonstrated by cardiac catheterization.
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References
- Idiopathic (hereditary) hyperlipemia and hypercholesterolemia in children.Pediatrics. 1961; 28: 276-284
Magos C, Bialostozky D, Compoy A, et al: Familial hyperlipoproteinemia. Arch Inst Cardiol Mex, in press
- Familial hyperlipoproteinemia.in: Standbury JB Wyngaarden JB Fredrickson DS Metabolic Basis of Inherited Disease. McGraw-Hill, New York1972: 565-581
- Lípidos séricos en la Clinica.in: Monografias del Instituto Nacional de Cardiologia, México, Interamericana1973: 158-160
- A simplified method for the estimation of total cholesterol in serum and demonstration of its specificity.J Biol Chem. 1952; 195: 357-366
- Micromethod for the direct determination of serum triglycerides.J Lab Clin Med. 1957; 50: 152-157
- Sharper separation of lipoprotein species by paper electrophoresis in albumin-containing buffer.J Lab Clin Med. 1963; 61: 518-528
- Hyperlipoproteinemia and coronary heart disease.Prog Cardiovasc Dis. 1972; 14: 341-359
- Familial hypercholesterolemia in large kindred.in: Evidence for a monogenic mechanism. third edition. Ann Intern Med. 76. 1972: 711-720
- Cardiovascular pathology in hyperlipoproteinemia.in: Anatomic observations in 42 necropsy patients with normal or abnormal serum lipoprotein patterns. third edition. Am J Cardiol. 31. 1973: 557-570
- Diagnosis and management of hyperlipoproteinemia in infants and children.Am J Cardiol. 1973; 31: 547-556
- Neonatal familial type II hyperlipoproteinemia: cord blood cholesterol in 1800 births.Metabolism. 1971; 20: 597-608
- Early detection and treatment of familial type II hyperlipoproteinemia.Circulation. 1970; 41 (abstr): III-41-III-42
- Hyperlipoproteinemia—1972.Cardiovasc Res Center Bull. 1972; 11: 3-20
- The metabolism of low density lipoprotein in familial type II hyperlipoproteinemia.J Clin Invest. 1972; 51: 1528-1536
- Xanthomata tuberosum, aortic stenosis, coronary sclerosis and angina pectoris.in: Report of a case in a boy 13 years of age. third edition. Am J Dis Child. 73. 1947: 326-333
- Sudden death during childhood with xanthoma tuberosum: review of literature and report of a case.JAMA. 1950; 142: 1268-1271
- Heredity in primary hyper-B-lipoproteinemia with concomitant xanthomata.in: Report on three kindreds with presumably six homozygotes. third edition. Acta Med Scand. 188. 1970: 397-401
- Xanthomatosis and essential hypercholesterolemia.Lancet. 1957; 1: 855-857
- The inheritance of essential familial hypercholèsterolemia.Am J Med. 1964; 37: 402-407
- Atherosclerosis and aortic stenosis in hypercholesteremic xanthomatosis.JAMA. 1954; 156: 943-947
- Joint dependence of risk of coronary heart disease on serum cholesterol and systolic blood pressure: a discriminant function analysis.Fed Proc. 1962; 21 (part II): 58-61
- Xanthomatosis and coronary heart disease: necropsy studies of two affected siblings.Arch Intern Med. 1958; 102: 437-442
- Calcific aortic stenosis, familial xanthomatosis and hypercholesterolemia.Am Heart J. 1954; 48: 485-496
- Acquired aortic stenosis in a twelve-year-old girl with xanthomatosis.in: Successful surgical correction. third edition. N Engl J Med. 273. 1965: 1378-1380
- Aortic stenosis and myocardial infarction in hypercholesterolemic xanthomatosis.Am Heart J. 1967; 73: 687-692
- Pathology of the Heart.in: Charles C Thomas, Springfield, Ill1953: 563
- Familial hypercholesterolemic xanthomatosis: a preliminary report. I. Clinical, electrocardiographic and laboratory considerations.Am J Med. 1959; 26: 829
- The structure of the aortic valve in clinically isolated aortic stenosis.in: An autopsy study of 162 patients over 15 years of age. third edition. Circulation. 42. 1970: 91-97
- Familial hypercholesterolemia, xanthomatosis and coronary heart disease.Am J Med. 1959; 26: 39-53
- Essential familial hypercholesterolemia and xanthomatosis: follow up study of 12 Danish families.Am J Med. 1956; 21: 34-46
- Genetic control of plasma cholesterol.in: Studies on squirrel monkeys. third edition. Arch Pathol. 92. 1971: 37-45
- Formes cutaneo-tendineuses de xanthomatose hypercholesterolemiques.Atherosclerosis. 1971; 13: 147-169
Article info
Publication history
Accepted:
July 2,
1974
Identification
Copyright
© 1975 Published by Elsevier Inc.